Mutation details:

Protein level identifier (NP_115785):

p.Leu489Pro

cDNA level identifier (NM_032409):

c.1466T>C

Gene level identifier:

g.15755T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

1:20975702 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

30

Positive functional evidence:

16079129; 22645651; 25305081;

Number of all included cases:

1 compound heterozygous (1 in total).